Joubert syndrome; case report

Abstract

Joubert syndrome is a rarely seen disease which generally presents in the first month of the life; characterized by hypotonia, tachypnea and apnea episodes. Furthermore; abnormal respiration pattern, abnormal eye and tongue movements, ataxia, mental - motor retardation can be found. Should be kept in mind that some extracerebral disorders may accompany in some cases It has to be considered in the differential diagnosis of patients with abnormal respiration pattern. A forty days old male who had tachypnea and had been diagnosed Joubert syndrome was discussed in the light of the literature.